NM_001943.5(DSG2):c.527C>T (p.Thr176Ile) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Jan 25, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000477874.1

Allele description [Variation Report for NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)]

NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)
HGVS:
  • NC_000018.10:g.31522086C>T
  • NG_007072.3:g.28845C>T
  • NM_001943.5:c.527C>TMANE SELECT
  • NP_001934.2:p.Thr176Ile
  • LRG_397t1:c.527C>T
  • LRG_397:g.28845C>T
  • NC_000018.9:g.29102049C>T
  • NM_001943.3:c.527C>T
  • NM_001943.4:c.527C>T
Protein change:
T176I
Links:
dbSNP: rs536617217
NCBI 1000 Genomes Browser:
rs536617217
Molecular consequence:
  • NM_001943.5:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy, type 10 (ARVD10)
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular dysplasia type 10; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10
Identifiers:
MONDO: MONDO:0012434; MedGen: C1857777; OMIM: 610193
Name:
Dilated cardiomyopathy 1BB (CMD1BB)
Synonyms:
CARDIOMYOPATHY, DILATED, 1BB, SUSCEPTIBILITY TO
Identifiers:
MONDO: MONDO:0013030; MedGen: C2752072; Orphanet: 154; OMIM: 612877

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536718Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqno assertion criteria providedUncertain significance
(Jan 25, 2016)
paternalresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536718.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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